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A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by insufficient activity of α-galactosidase A (α-Gal A) encoded by GLA. The enzymatic defect causes the progressive accumulation of sphingolipids in various tissues and body fluids, causing systemic disorders. We report a rare famil...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276250/ https://www.ncbi.nlm.nih.gov/pubmed/37332487 http://dx.doi.org/10.1016/j.ymgmr.2023.100982 |